nsv3920536
- Organism: Homo sapiens
- Study:nstd102 (Clinical Structural Variants)
- Variant Type:copy number variation
- Method Type:Multiple
- Submitted on:GRCh37, GRCh38, NCBI36
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: Yes
- Region Size:848,008
- Description:GRCh38/hg38 11q12.1-12.2(chr11:59851273-60699280)x1 AND See cases
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 2001 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 2001 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 444 SVs from 18 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Assembly | Assembly Unit | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nsv3920536 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 59,851,273 | 60,699,280 |
| nsv3920536 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000011.9 | Chr11 | 59,618,746 | 60,466,753 |
| nsv3920536 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000011.8 | Chr11 | 59,375,322 | 60,223,329 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139946 | copy number loss | Multiple | Multiple | See cases | Likely benign | ClinVar | RCV000143668.5, VCV000155601.2 | 1 |
Variant Call Placement Information
| Variant Call ID | Placement Type | HGVS | Assembly | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|
| nssv15139946 | Submitted genomic | NC_000011.10:g.(?_ 59851273)_(6069928 0_?)del | GRCh38 (hg38) | NC_000011.10 | Chr11 | 59,851,273 | 60,699,280 |
| nssv15139946 | Submitted genomic | NC_000011.9:g.(?_5 9618746)_(60466753 _?)del | GRCh37 (hg19) | NC_000011.9 | Chr11 | 59,618,746 | 60,466,753 |
| nssv15139946 | Submitted genomic | NC_000011.8:g.(?_5 9375322)_(60223329 _?)del | NCBI36 (hg18) | NC_000011.8 | Chr11 | 59,375,322 | 60,223,329 |
No validation data were submitted for this variant
Clinical Assertions
| Variant Call ID | HGVS | Type | Allele Origin | Subject Phenotype | Clinical Interpretation | Source of Interpretation | ClinVar ID | Copy number |
|---|---|---|---|---|---|---|---|---|
| nssv15139946 | GRCh37: NC_000011.9:g.(?_59618746)_(60466753_?)del, GRCh38: NC_000011.10:g.(?_59851273)_(60699280_?)del, NCBI36: NC_000011.8:g.(?_59375322)_(60223329_?)del | copy number loss | paternal | See cases | Likely benign | ClinVar | RCV000143668.5, VCV000155601.2 | 1 |